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General Information
ZIRC
OBO ID: DOID:0080191
Term Name: PTEN hamartoma tumor syndrome Search Ontology:
Synonyms:
Definition: A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (3)
References:
  • GARD:12800
Ontology: Human Disease   (DOID:0080191)
Relationships
is a type of:
OTHER PTEN hamartoma tumor syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None